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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01096 | Pyruvate kinase deficiency | Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ... | Inherited metabolic disorder | PKLR [HSA:5313] [KO:K12406] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |